Cancer Susceptibility (including unclassified variants)

Genetic variant databases

When testing a gene, many different types of genetic changes are identified. Some genetic changes clearly impair the function of the gene (that is, they are pathogenic) and may cause disease. Other genetic changes are benign – causing no problems with the gene and creating no medical problems for the individual.

However, some genetic changes are not easily classified as either pathogenic or benign. These genetic changes are called unclassified variants. Unclassified variants present a dilemma for researchers, clinicians, and patients – all of whom are seeking clear, informative genetic test results. When an unclassified variant is identified in a patient’s genetic test results, it is unknown whether or not that variant has caused or could cause disease in the patient (or his/her family members).

Many researchers are working to gain more information about variants to definitively classify them as benign or pathogenic. However, this research takes time. Until a variant can be classified, care for patients and their relatives is typically planned using what is definitely known – with tailored treatment and screening recommendations based on the patient’s personal and family history rather than the genetic variant.

Researchers at Huntsman Cancer Institute have been involved with unclassified variant research for many years. Their research has focused on classifying variants in genes associated with hereditary cancer risk, including BRCA1 and BRCA2 and the mismatch repair genes. To increase access to genetic variant information, we have created this portal. By following the links below, you can access multiple internal and external databases full of information on variants in genes associated with hereditary cancer. You can also review Powerpoint slides, videos, and articles on the topic of genetic variants. These databases are updated frequently, so we encourage you to check back regularly.

If you or one of your patients has received a genetic test result containing an unclassified variant and you are looking for additional clinical guidance, please contact the Family Cancer Assessment Clinic at Huntsman Cancer Institute at 801-587-9555. One of the genetic counselors can assist you.